Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

Forskningsoutput: TidskriftsbidragÖversiktsartikel

Abstract

Somatic mutations of KIT are frequently found in mastocytosis and gastrointestinal stromal tumor (GIST), while germline mutations of KIT are rare, and only found in few cases of familial GIST and mastocytosis. Although ligand-independent activation is the common feature of KIT mutations, the phenotypes mediated by various germline KIT mutations are different. Germline KIT mutations affect different tissues such as interstitial cells of Cajal (ICC), mast cells or melanocytes, and thereby lead to GIST, mastocytosis, or abnormal pigmentation. In this review, we summarize germline KIT mutations in familial mastocytosis and GIST and discuss the possible cellular context dependent transforming activity of KIT mutations.

Detaljer

Författare
Enheter & grupper
Externa organisationer
  • Ningxia Medical University
  • Chinese University of Hong Kong
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Cancer och onkologi
  • Cell- och molekylärbiologi

Nyckelord

Originalspråkengelska
Artikelnummer55
TidskriftCell and Bioscience
Volym6
Utgivningsnummer1
StatusPublished - 2016 okt 18
PublikationskategoriForskning
Peer review utfördJa